All variants in the NIPBL gene

Information The variants shown are described using the NM_133433.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.2021A>G r.(?) p.(Asn674Ser) - - benign g.36985303A>G g.36985201A>G NIPBL(NM_015384.5):c.2021A>G (p.N674S) - NIPBL_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2021A>G r.(?) p.(Asn674Ser) - - benign g.36985303A>G g.36985201A>G NIPBL(NM_015384.5):c.2021A>G (p.N674S) - NIPBL_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 10 c.2021A>G r.(?) p.(Asn674Ser) - - benign g.36985303A>G g.36985201A>G - - NIPBL_000103 - PubMed: Miyake 2005; {dbSNP3822471} - - Germline - 0.13 (JP) - 0 - Cristina Dias
Legend   How to query